Order Test

Test Inquiry
Test Code B0015
Test Summary

This test detects galactosamine-6-sulfatase activity.

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
NY Approved No
Self (patient) Price $108.90
Institutional Price $108.90
Revvity Omics Tax ID: 25-1645804
*TAT starts after the sample and all required sample information is received at Revvity Omics.

This test detects galactosamine-6-sulfatase enzyme activity that has been associated with mucopolysaccharidosis type IV.

This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type IV and/or individuals with a family history of mucopolysaccharidosis type IV.

Mucopolysaccharidosis type IV is a disease associated with progressive skeletal disease. Age of onset is typically in early childhood with symptoms of short stature, knock knees, skeletal abnormalities of the ribs, chest, spine, hips, and wrists, hypermobile joints and/or restricted joint movement, underdevelopment of the odontoid process, spinal compression, clouded corneas, hearing loss, sleep apnea, distinct facial features, dental disorders, heart valve abnormalities, hepatomegaly, and umbilical and inguinal hernias. Life expectancy is reduced, with more severe forms causing death in late childhood. The incidence of mucopolysaccharidosis type IV is estimated to be ~ 1 in 200,000.

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Order Test